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GENATLAS PHENOTYPE
last update : 30-09-2015
Symbol EDS7A1
Location 17q21.33
Name Ehlers-Danlos syndrome, type VIIA
Other name(s)
  • Ehlers-Danlos syndrome arthrochalasia type
  • EDS VII, mutant procollagen type
    • Corresponding gene COL1A1
    Main clinical features
  • severe generalized joint hypermobility, with recurrent subluxations, congenital bilateral hips dislocations
  • frequency of congenital hip dislocation and extreme joint laxity and minimal skin involvement
  • severe generalized joint hypermobility with multiple dislocations including congenital bilateral dislocation of the hips, muscular hypotonia and distinct dysmorphic features
  • arthrochalasis multiplex congenita, including short stature, small mandible, considerable hyperextensibility, and increased skin bruising
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name collagen type I, alpha 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing     exon 6 skipping (COL1A1), mutation altering the consensus splice site resulting in exon skipping
    Remark(s)